Canonical Allele Identifier: CA345045679

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083260T>G (hg19) ; chr1:g.226895559T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895559T>G , CM000663.2:g.226895559T>G	GRCh38
NC_000001.10:g.227083260T>G , CM000663.1:g.227083260T>G	GRCh37
NC_000001.9:g.225149883T>G	NCBI36
NG_007381.1:g.29988T>G
NG_012825.2:g.3024T>G
NG_007381.2:g.30376T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1327T>G	ENSP00000355741.2:p.Ser443Ala
ENST00000366782.6:c.1327T>G	ENSP00000355746.2:p.Ser443Ala
ENST00000366783.8:c.1327T>G MANE Select	ENSP00000355747.3:p.Ser443Ala
ENST00000471728.2:n.1965T>G
ENST00000524196.6:c.1327T>G	ENSP00000429036.2:p.Ser443Ala
ENST00000626989.3:c.1327T>G	ENSP00000486498.2:p.Ser443Ala
ENST00000676467.1:c.*1154T>G	ENSP00000504294.1:n.*1154T>G
ENST00000676747.1:c.1188+1434T>G	ENSP00000503244.1:n.1188+1434T>G
ENST00000676884.1:c.1327T>G	ENSP00000503200.1:p.Ser443Ala
ENST00000676888.1:c.*668T>G	ENSP00000504483.1:n.*668T>G
ENST00000676907.1:c.*906T>G	ENSP00000504410.1:n.*906T>G
ENST00000676945.1:c.1191+1434T>G	ENSP00000504433.1:n.1191+1434T>G
ENST00000677065.1:n.1888T>G
ENST00000677414.1:c.1327T>G	ENSP00000503116.1:p.Ser443Ala
ENST00000677529.1:n.3057T>G
ENST00000677596.1:c.*1549T>G	ENSP00000503618.1:n.*1549T>G
ENST00000677599.1:c.1191+1434T>G	ENSP00000503673.1:n.1191+1434T>G
ENST00000677748.1:n.3582T>G
ENST00000677880.1:c.892T>G	ENSP00000503121.1:p.Ser298Ala
ENST00000678021.1:c.*950T>G	ENSP00000504674.1:n.*950T>G
ENST00000678233.1:c.1327T>G	ENSP00000504728.1:p.Ser443Ala
ENST00000678320.1:c.1228T>G	ENSP00000503680.1:p.Ser410Ala
ENST00000678655.1:c.1092+1434T>G	ENSP00000504230.1:n.1092+1434T>G
ENST00000678706.1:c.*704T>G	ENSP00000503659.1:n.*704T>G
ENST00000678776.1:c.*1464T>G	ENSP00000504624.1:n.*1464T>G
ENST00000678784.1:c.1073-2161T>G	ENSP00000504652.1:n.1073-2161T>G
ENST00000678820.1:c.1089+1434T>G	ENSP00000504138.1:n.1089+1434T>G
ENST00000678835.1:c.*757-2161T>G	ENSP00000504343.1:n.*757-2161T>G
ENST00000679088.1:c.1327T>G	ENSP00000504727.1:p.Ser443Ala
ENST00000679098.1:c.1327T>G	ENSP00000504303.1:p.Ser443Ala
ENST00000366782.5:c.1426T>G	ENSP00000355746.1:p.Ser476Ala
ENST00000366783.7:c.1327T>G	ENSP00000355747.3:p.Ser443Ala
ENST00000422240.6:c.1324T>G	ENSP00000403737.2:p.Ser442Ala
ENST00000472139.2:c.895T>G	ENSP00000427806.1:p.Ser299Ala
ENST00000626989.2:c.1426T>G	ENSP00000486498.1:p.Ser476Ala
NM_000447.2:c.1327T>G	NP_000438.2:p.Ser443Ala
NM_012486.2:c.1324T>G	NP_036618.2:p.Ser442Ala
XM_005273199.2:c.1327T>G	XP_005273256.1:p.Ser443Ala
XM_011544236.1:c.895T>G	XP_011542538.1:p.Ser299Ala
XM_005273199.4:c.1327T>G	XP_005273256.1:p.Ser443Ala
XM_017001835.1:c.1327T>G	XP_016857324.1:p.Ser443Ala
XM_017001836.1:c.1324T>G	XP_016857325.1:p.Ser442Ala
XR_001737316.2:n.1478-2161T>G
XR_001737317.2:n.1478-2161T>G
XR_001737318.2:n.2042T>G
XR_001737319.1:n.2385T>G
XR_001737320.1:n.2382T>G
XR_001737321.1:n.1877T>G
XR_949149.2:n.2039T>G
XR_949150.3:n.2258T>G
NM_000447.3:c.1327T>G MANE Select	NP_000438.2:p.Ser443Ala
NM_012486.3:c.1324T>G	NP_036618.2:p.Ser442Ala